المؤلفون: Pasca, Ludovica, Politano, Davide, Cavallini, Anna, Panzeri, Elena, Vigone, Maria Cristina, Baldoli, Cristina, Abbate, Marco, Kullmann, Gaia, Marelli, Susan, Pozzobon, Gabriella, Vincenzi, Gaia, Nacinovich, Renata, Bassi, Maria Teresa, Romaniello, Romina

المصدر: Neuropediatrics; Jun2024, Vol. 55 Issue 3, p191-195, 5p

مصطلحات موضوعية: AGENESIS of corpus callosum, DYSPLASIA, PHENOTYPES, GENETIC mutation, CONGENITAL hypothyroidism, CORPUS callosum

المؤلفون: Zanotta, Nicoletta, Panzeri, Elena, Minghetti, Sara, Citterio, Andrea, Giorda, Roberto, Marelli, Susan, Bassi, Maria Teresa, Zucca, Claudio

المساهمون: Ministero della Salute

المصدر: Seizure: European Journal of Epilepsy ; volume 116, page 151-155 ; ISSN 1059-1311

مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1016/j.seizure.2023.01.015Test
https://api.elsevier.com/content/article/PII:S1059131123000213?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1059131123000213?httpAccept=text/plainTest

المؤلفون: Bonaglia, Maria Clara, Fichera, Marco, Marelli, Susan, Romaniello, Romina, Zuffardi, Orsetta

المساهمون: Ministero della Salute

المصدر: European Journal of Medical Genetics ; volume 65, issue 11, page 104596 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104596Test
https://api.elsevier.com/content/article/PII:S176972122200177X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S176972122200177X?httpAccept=text/plainTest

المؤلفون: Fichera, Marco, Saccuzzo, Lucia, Bertuzzo, Sara, Marelli, Susan, Cavallini, Anna, Romaniello, Romina, Kocova, Mirjana, Citterio, Andrea, Fanizza, Isabella, Trabacca, Antonio, Pagliazzi, Angelica, Guarducci, Silvia, Giglio, Sabrina, Zuffardi, Orsetta, Bonaglia, Maria Clara

المساهمون: Fichera, Marco, Saccuzzo, Lucia, Bertuzzo, Sara, Marelli, Susan, Cavallini, Anna, Romaniello, Romina, Kocova, Mirjana, Citterio, Andrea, Fanizza, Isabella, Trabacca, Antonio, Pagliazzi, Angelica, Guarducci, Silvia, Giglio, Sabrina, Zuffardi, Orsetta, Bonaglia, Maria Clara

مصطلحات موضوعية: PBX1, Genotype-phenotype, Haploinsufficiency, Incomplete penetrance, ATP1B1, Microcephaly, Contiguous gene syndrome

العلاقة: volume:4; issue:3; firstpage:114; lastpage:132; numberofpages:19; journal:JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS; http://hdl.handle.net/11584/311207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148449917

الإتاحة: https://doi.org/10.20517/jtgg.2020.16Test
http://hdl.handle.net/11584/311207Test

المؤلفون: Udugampolage, Nathasha, Caruso, Rosario, Panetta, Mariangela, Callus, Edward, Dellafiore, Federica, Magon, Arianna, Marelli, Susan, Pini, Alessandro

المساهمون: N. Udugampolage, R. Caruso, M. Panetta, E. Callu, F. Dellafiore, A. Magon, S. Marelli, A. Pini

مصطلحات موضوعية: Settore M-PSI/08 - Psicologia Clinica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34106976; info:eu-repo/semantics/altIdentifier/wos/WOS:000664642200061; volume:16; issue:6; firstpage:1; lastpage:12; numberofpages:12; journal:PLOS ONE; http://hdl.handle.net/2434/850291Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107604119

الإتاحة: https://doi.org/10.1371/journal.pone.0252864Test
http://hdl.handle.net/2434/850291Test

المؤلفون: Pasca, Ludovica, Politano, Davide, Cavallini, Anna, Panzeri, Elena, Vigone, Maria Cristina, Baldoli, Cristina, Abbate, Marco, Kullmann, Gaia, Marelli, Susan, Pozzobon, Gabriella, Vincenzi, Gaia, Nacinovich, Renata, Bassi, Maria Teresa, Romaniello, Romina

المساهمون: Italian Ministry of Health

المصدر: Neuropediatrics ; volume 55, issue 03, page 191-195 ; ISSN 0174-304X 1439-1899

الإتاحة: https://doi.org/10.1055/a-2114-4387Test

المؤلفون: Gentilini, Davide, Oliveri, Antonino, Fazia, Teresa, Pini, Alessandro, Marelli, Susan, Bernardinelli, Luisa, Di Blasio, Anna Maria

المساهمون: Brodehl, Andreas

المصدر: PLOS ONE ; volume 14, issue 9, page e0222506 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0222506Test

المؤلفون: Salvi, Paolo, Furlanis, Giulia, Grillo, Andrea, Pini, Alessandro, Salvi, Lucia, Marelli, Susan, Rovina, Matteo, Moretti, Francesco, Gaetano, Raffaella, Pintassilgo, Inês, Faini, Andrea, Fabris, Bruno, Carretta, Renzo, Parati, Gianfranco

المصدر: Journal of the American Heart Association ; volume 8, issue 9 ; ISSN 2047-9980

الإتاحة: https://doi.org/10.1161/jaha.118.011440Test

المؤلفون: Marelli, Susan¹ (AUTHOR) alessandro.pini@grupposandonato.it, Micaglio, Emanuele² (AUTHOR) emanuele.micaglio@grupposandonato.it, Taurino, Jacopo¹ (AUTHOR) jacopo.taurino@grupposandonato.it, Salvi, Paolo³ (AUTHOR) psalvi@gmail.com, Rurali, Erica⁴ (AUTHOR) erica.rurali@cardiologicomonzino.it, Perrucci, Gianluca L.⁴ (AUTHOR), Dolci, Claudia⁵ (AUTHOR) claudia.dolci@unimi.it, Udugampolage, Nathasha Samali¹ (AUTHOR), Caruso, Rosario^6,7 (AUTHOR) edward.callus@unimi.it, Gentilini, Davide^8,9 (AUTHOR) davide.gentilini@unipv.it, Trifiro', Giuliana¹ (AUTHOR), Callus, Edward^7,10 (AUTHOR), Frigiola, Alessandro^11,12 (AUTHOR) alessandro.frigiola@grupposandonato.it, De Vincentiis, Carlo^13,14 (AUTHOR), Pappone, Carlo^2,15,16 (AUTHOR) carlo.pappone@grupposandonato.it, Parati, Gianfranco^3,17 (AUTHOR), Pini, Alessandro¹ (AUTHOR)

المصدر: Diagnostics (2075-4418). Jul2023, Vol. 13 Issue 13, p2284. 28p.

مصطلحات موضوعية: *MARFAN syndrome, *ASCENDING aorta aneurysms, *ASCENDING aorta dissection, *EHLERS-Danlos syndrome, *MUSCULOSKELETAL system, *AORTIC dissection, *MITRAL valve prolapse

المؤلفون: Cirello, Valentina, Giorgini, Valentina, Castronovo, Chiara, Marelli, Susan, Mainini, Ester, Sironi, Alessandra, Recalcati, Maria Paola, Pessina, Marco, Giardino, Daniela, Larizza, Lidia, Persani, Luca, Finelli, Palma, Russo, Silvia, Fugazzola, Laura

المصدر: Frontiers in Genetics ; volume 9 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2018.00600Test